A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation

American Journal of Gastroenterology

Volumn 96, Issue 10, 2001, Pages 3016-3020

  Raedle, Jochen ^a   Friedl, Waltraut ^b   Engels, Hartmut ^b   Koenig, Rainer ^a   Trojan, Joerg ^a   Zeuzem, Stefan ^a,c  

^a GOETHE UNIVERSITY   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY HOSPITAL FRANKFURT   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN;

ABDOMINAL PAIN; ADENOMATOUS POLYP; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 5Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COLON POLYP; COLORECTAL CANCER; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE ASSOCIATION; DNA FLANKING REGION; FACE DYSMORPHIA; FAMILIAL DISEASE; GENOTYPE; HIGH RISK PATIENT; HUMAN; MALE; MARKER GENE; MENTAL DEFICIENCY; OCCULT BLOOD; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADENOMATOUS POLYPOSIS COLI; ADULT; CHROMOSOMES, HUMAN, PAIR 5; GENE DELETION; GENES, APC; GENOTYPE; HUMANS; MALE; MENTAL RETARDATION; NUCLEIC ACID HYBRIDIZATION;

EID: 0034798911     PISSN: 00029270     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9270(01)03236-1     Document Type: Article

References (23)

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3. Identification of FAP locus genes from chromosome 5q21
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8. The molecular basis of Turcot's syndrome
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15. Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis
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17. Two cases of 5q deletions in patients with familial adenomatous polyposis: Possible link with Caroli's disease
18. Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5
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21. Double chromosome anomaly: Interstitial deletion 5q and reciprocal translocation (1;11)(p22;q21)
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